Gratitude and Perspective

I just finished watching the movie Henry Poole Was Here. It wasn't a movie that I loved, but I felt too invested to not finish it. So I did. Without spoiling the movie, I will say I took away the message about living in the moment and enjoying the gifts we have. 

I'm trying this year, sometimes successfully and other moments not quite so much, to be present. Life last year was a wicked reminder that nothing is guaranteed and that our lives can change in an instant. (The ironic thing with cancer is that we feel as though our lives change in an instant, yet the change is already happening inside our bodies for some time before it's discovered. Perhaps that's too deep for this blog, but I'd like to think the same is true for positive changes as well ... that they're occurring long before we see the results.) Anyways, my intention is to be present and soak in the moments, finding the joy and happiness that exists each day.

Last week Teddy woke up at 3:30 a.m. Not for a bit before falling back asleep. No, he woke up for the day at 3:30 a.m. 

I'll be the first to admit my gratitude at 3:30 a.m. is outweighed by my desire for sleep. However, I checked weather and determined that, yes, indeed, it was warm enough to take Teddy outdoors. So Dave hung with him until 4:30 while I was super productive prepping cookies and breads for my bakery. Then we bundled Teddy in snowpants and all his gear (because warm enough in Wisconsin March still means snow gear to protect from the chill). And we headed to run with my friend at 5 a.m.

5 a.m. photos are a bit blurry.

Fortunately, I have incredible friends who aren't surprised when we have an extra running buddy for our early morning runs. Better yet, a few of them willingly offer to help push him! Teddy absolutely loves hanging with my friends and loves running with us (even if there's no popcorn and barstools afterward). So we did 5 miles of both cardio and strength training (as he weighs a solid 100 pounds now, plus his chair) before 6 a.m. 

Although we joked about being out of shape for pushing, I headed home from that run filled with gratitude that I can still run with Teddy. So many things have become more difficult or impossible through the years, and this is something we both love doing together that we can continue to do. 

And, let's be honest, few things make you feel more like a kickbutt human than pushing your son for a 5-mile run at 5 a.m. even if you wish he was still sleeping then.  

Winter Picnic

One of my favorite winter traditions is our winter picnic. This winter hadn't cooperated with a lack of snow, then insanely cold temperatures and then a very busy February. So when the weather looked beautiful this past weekend - highs in the 30s - I reached out to my dad to see if we could do the picnic, even though we wouldn't have Dave because he was in Florida for work.

My dad said yes, which is good because just a couple days later the unseasonably warm temperatures destroyed our snow. And snow is a crucial element for winter picnics because a winter picnic includes rides on the incredible snow tube contraption my dad designed and built years ago (probably 8 years?). 

So the boys and I headed to the farm for a fun-filled day. It felt different, for sure, without my mom, as she was always willing to ride the tube and entertained Teddy for periods while we got things set for the picnic. But she'd be happy to know the tradition continues and that more fun memories were made.

In recent years, Teddy has been skittish about riding the tube, preferring to ride the ATV with Grandpa instead. This year he was all in for several tube rides with AJ and asked to ride with Grandpa while AJ drove. He was all smiles, even if I couldn't capture them through the windshield of the ATV.

We had so much fun we weren't even jealous of Dave in Florida.

The weather was beautiful, the fire cooked our hot dogs and s'mores perfectly, there were tractors to ride and there were even a couple shovels for Teddy and Grandpa to dig in the snow together. (Of course, Teddy kept trying to dig my adult beverage out of the snow, where I was storing it between sips for supposedly safe keeping.)

As we pulled into our driveway at the end of the day, after our 2+ hour car ride home, AJ thanked me out of the blue and commented how much fun the day had been. Now that he's a teenager, those type of unsolicited thanks and praise resonate even more.

The boys convinced Grandpa to ride the Beast.

Love is Inclusive

I know I'm late to share this since Valentine's Day was nearly 2 weeks ago, but it'll be worth the wait. 

Teddy was invited to a Valentine's Day party, as was his entire class, at a local venue that's pretty darn classy. One of the local high schools coordinated this dance for all the middle and high school students to give them the opportunity to shine, as many of them aren't able to enjoy the traditional middle school dances or high school dances like prom, homecoming, etc. for various reasons. So this was a dance designed to let them enjoy music, dancing, food, friendship and fun ... and it was a huge success.

I'm so proud of one of our childcare providers, who happens to be one of the two teachers who coordinated this event. They reached out for various donations and were able to provide this event at no cost to students (except for if they wanted unlimited soda). Kwik Trip, a local gas station that's a Wisconsin staple, donated all the pizzas. The venue was donated, and a local bakery that I know quite well (OK, my bakery Nonesuch Bakery, donated paint your own cookies for all the goodie bags.) It was heartwarming to see the community come together for these kids.

Teddy and all the students had a blast! We got to see so many pictures of Teddy dancing and hanging out with his friends. Because all the schools in the district were included, he got to see one of his good friends from last year who's at a different school now. He was so excited to see our childcare provider, who teaches at the high school. He also knows her boyfriend quite well from family dinners at our house, so he was stoked to see Jake and drag him everywhere. 

"No, over there!"

It often feels, as parents of a child with disabilities, that we have to advocate, fight and ask for everything. And that's often the case. So when others go out of their way and make it easy for our children to be included and accepted for who they are, that means the world to us. 

Look at that joy!

So that's my takeaway for everyone who doesn't have a child with unique needs-look for the little ways to include others who may be different. When you open the door for us and invite us in, it makes our lives so much easier. 

Expectations Vs. Reality

If you have children, you know things rarely go according to plan. (Honestly, if you're alive, you probably know things don't go according to plan.) If you have a child with disabilities, then it's guaranteed that your expectations will rarely be reality. 

This past weekend we got several inches of snow. Playing in the snow is one of the few things AJ actually enjoys doing with Teddy ... it's one of the last shared interests for play as AJ is maturing. So we spent some time outdoors shoveling snow and playing in it during the storm, which was fun for the whole family.

I find there to be few things as peaceful as a walk in the woods with fresh snowfall. Now, I knew a walk in the woods wouldn't be peaceful with Teddy, but I wanted a family adventure so off we went. I knew that my ideas of "hiking at least a mile" were doubtful, especially with the small trail we went. I knew my husband's expectation that he'd just pull Teddy in the sled were even more dubious, as was his belief that Teddy wouldn't notice the school playground. What I didn't realize was that AJ also had expectations of pulling Teddy in the sled by himself to help. Teddy's expectations I believe included eating copious amounts of snow and finding a playground to enjoy. 

Those are genuine smiles. 

So reality looked a bit like this:

1. Everyone happily walking, except Teddy who was in the sled being pulled by AJ. Me wandering ahead and making an extra loop to enjoy extra time while we putzed at our slow pace. This lasted maybe 5 minutes or so where everyone was happy.
2. Teddy tipping out of the sled and deciding Dave should go in the sled. So AJ and I pulled Dave surfing style for about 20 feet until he begged us to stop before he toppled. 
3. That led to me surfing for a couple hundred feet as we looped around the lake.
4. Teddy spotted a gazebo and had to explore. That was easy. The hard part was convincing him to leave.
5. We were excited to find the book Bear Snores On on display to read, even though we read it completely backward.
6. Teddy spotted the playground and tried to make a break for it.
7. Teddy flopped. Multiple times.
8. Teddy was willing to get in the sled with AJ, which meant we were pulling about 240 pounds. 
9. Teddy fed AJ snow. (This was my favorite part of the walk, and I got it on video that won't upload here.)
10. Teddy flopped. More times. 
11. We got Teddy in the sled and booked it as fast as we could to get closer to the car. AJ was disappointed not to pull Teddy on his own.
12. Teddy flopped. More times. 
13. We made it back to the car. Everyone was disappointed in their own way, some big and some little. 

But we got to enjoy almost an hour of sunshine, fresh air, some laughs, exercise (especially hauling 2 kids) and family time. Life isn't perfect, but it's about enjoying the moments and trying to make memories. 

Cooking in Style

One of the requirements of being Teddy's mom (or parent) is advocacy. As Teddy has no voice with which to advocate for himself, or even express his wants, we serve as his voice Sometimes that means translating for him because he certainly can communicate in his own ways. Other times that means speaking up for him (and his peers) to ensure they have access to what they need and deserve.

Through conversations with Teddy's team last fall, we learned that his life skills class wasn't intended to continue through the spring semester. This life skills class, for typical 6th graders, covers basic life skills like laundry, housekeeping and cooking. The teacher does an amazing job with an adaptive life skills class that focuses on similar skills, with an emphasis on cooking. This class is one place where Teddy gets additional support from OT and PT and often spends time interacting with other students and adults through deliveries throughout the school of homemade treats and goodies. If you can imagine, with as much as Teddy loves food and loves people, this class is his favorite! It's also extremely practical skills for him in life and an area where he shines in his own way.

While this class only lasts one semester in the standard 6th grade schedule, there's nothing standard about Teddy and his peers. We were excited to learn that the team had already coordinated and thought it was feasible to continue the class at his IEP in December. But ... they were waiting for approval from the district. 

So, naturally, we asked who needed to approve it, so that we could send an e-mail. I promptly drafted a beautifully written advocacy e-mail that evening and patiently waited ... an entire week. Rather than simply being frustrated that I got no response, I reread my email and realized I didn't specifically ask if the class would continue. So I redrafted my e-mail and resent it and patiently waited until I got a response the next day.

That response was along the lines of thanking me for my feedback and that schedules were already set for spring, so they'd try to incorporate this for the next school year. Knowing that Teddy's team had already coordinated and knew they could fit this into the schedule, I asked if there was any other barrier preventing the class from continuing through spring. Thankfully we were informed that the class could indeed continue! (I'm glad ... because otherwise we would have called another IEP to specifically request it, even though we just finished an IEP.)

My intention is never to be a pain for the school district, or anywhere, but I will advocate always for what is best for Teddy as kindly but strongly as needed. We try to be good partners, offering support to Teddy's team, brainstorming and showing our appreciation for all they do. So, after hearing how much all the kids enjoy "helping" each other tie their aprons, even though no one can actually tie the aprons, I offered to make no-tie aprons. The teen life teacher accepted that offer, so I finally finished 4 aprons this week (using some of my mom's fabric, which she would have loved). 

It seems the aprons are a hit! I was rewarded with a picture of smiling faces wearing the aprons. (I don't know that they were as excited about the aprons as they were the milkshakes they were making that day, but I'll take it.) 

Look at those smiles!

It's a sweet success to continue this class!

A Rebel Alliance

No, I'm not talking Star Wars. 

I'm talking parents of rare children. Specifically, I'm sharing an update on the PIGN-CDG drug-repurposing project. If you don't have time to read much, then check out this update from Perlara: Research Update. If you have more time, continue on.

As you may be aware from prior posts, our rare community is researching whether existing known drugs or compounds could be beneficial in helping our PIGN children. You can read more about the initial scope of the project here: Drug Repurposing Fundraising Many of you have generously donated directly or supported AJ's fundraisers selling fidgets and dragons that he creates himself on our 3-D printer. (You can still donate directly here: Tax-Deductible Donation or order dragons/fidgets here: AJ's Fundraiser)

To greatly simplify PIGN-CDG, Teddy's body cannot process sugars on the most basic cellular level. If you recall sugar chains and cell processing from biology, well, kudos to you because I don't. But you can think of it like an assembly line in a factory that has a broken part that prevents most of the pieces from being perfectly assembled. They may be somewhat functional, but it's rare (no pun intended) that they are fully functional. This results in all the challenges our children face, from seizures to hypotonia to respiratory challenges to developmental delays and the list continues. Their bodies don't function right on the cellular level, which obviously impacts them as a whole. 

It doesn't stop Ted from enjoying flying fighter jets, though.

This also complicates potential treatments because all medications and treatments can be impacted as well by these faulty sugar chains and processing problems. Everything can be a bit (or a lot) off with our children. Combine that with the fact that there are approximately 100 known cases of PIGN-CDG, and well, it's understandable why there's no treatment for this disorder. We can only treat the individual symptoms (aka treat the seizures, manage the hypotonia, etc.) and do nothing to improve the overall health of our children. 

That's why this drug-repurposing project is invaluable. This ground-breaking scientific research is taking a huge bank of known medications and compounds to see if anything that already exists could be used to improve the overall health. This is a long, expensive process. 

But it's so exciting that we're seeing promising results. As Perlara's update shares, some families have been piloting ascorbyl palmitate and seeing improvements. This compound can be easily accessed without a prescription in many countries, though each family must still work through their medical team. We are a bit later to start due to the events of last year, but we have baseline labs scheduled in a week with a bottle of ascorbyl palmitate secured. (Hmm, that reminds me we need to take baseline videos of Teddy this weekend.) We will start him at a low dose for a month, monitor and recheck labs and then potentially increase his dose. 

While we don't anticipate any overnight, drastic changes, any improvements for our PIGN children are huge. You may read the research update and think, well, that's just normal developmental milestones - it could be just that the child is getting older and advancing. But our children don't follow normal milestones, and they lag months or years behind most, if they achieve them. So any progress noted in a couple months of trialing the compound is fairly reasonably associated with the compound (though we will leave that up to the scientists and doctors with baseline and other labs, video evidence, recorded seizures, etc.)

We're excited about what this could mean for Teddy. We're excited about what it could mean for all our PIGN families, both present and those who get this difficult diagnosis in the future. So the next steps, while we continue to fundraise, is that because it's an over-the-counter compound, we're able to pilot and trial on our own as families (similar to how we've fundraised) without FDA approval. Perlara is busy in the lab and will be testing the best hits, including this ascorbyl palmitate, on the DNA samples from various PIGN children, including Teddy. This is the next step to evaluate what works best with real human PIGN mutations (of which there are many). The hope is that we continue to make progress and do move to the point of FDA trails, whether for this compound we have now or something different. 

The science will take years, and we so appreciate your generosity and support. It's exciting (and expensive) to be at the forefront of medical and scientific research that will directly benefit others like Teddy.

Middle School

There will be gaps in our journey because last year was hard, but I'm excited to share about Teddy's middle school journey. 

Let's rewind and remember that for the last 6 years, Teddy was at the same school. For the last 5 years, Teddy had the same teacher. We had a lot of consistency, mutual understanding and a deep understanding of Teddy (which takes time and effort since he's non-verbal). So needless to say, any transition, no matter how amazing the school and the team, was a bit nerve-wracking. We prepped as best as we could with a transitional IEP ... followed by another IEP the week before school to ensure Teddy's safety plan was sufficient. (That's a whole long story that will never get told, but it was a summer of advocacy to make sure we got what we needed.) And we had another IEP in December to recertify Teddy's qualification for special education (ugh, don't get me started on that IEP). 

It's been a learning curve for everyone. 

Teddy's team is learning him and how to best support him (and manage his challenges). They finally saw his full true colors about 1.5 months into school because of a med change and fully adapting to middle school. After a rough week, things settled back down. He made friends quickly, despite knowing no one aside from AJ and his friends and the neighbor girls at school. 

Teddy's learning middle school expectations, which are different than elementary. He's held to a higher standard for academics and focus, and sometimes he meets that challenge. Other times, he demonstrates his great leadership skills by forcing his classmates to do his bidding with hand-over-hand support for them. He gets to experience bits of band class, which he enjoys. He loves that there's a piano in his classroom for rewards. 

We're learning what's different in middle school. We're missing the fun art projects and Christmas gifts that we always got in elementary school ... along with the always entertaining concerts. Communication was a big challenge until the December IEP. We decided to use a Google doc, so we've been getting daily updates from various teachers and now have a great way to provide updates from home. This has been a game changer for all of us.

With so much to say about the last four months, I'll share 2 highlights:

One of our neighbor girls is in 8th grade. As weird as it sounds, 6th and 8th graders share gym class, so we learned that Teddy is in her gym class. It turns out that on the first day of gym, when Teddy was so excited to see a person he knew (because this is a new school for him with no one from his old school), he was insistent on playing with her. Other kids asked, "You know him?" And, bless her heart, she immediately responded with, "Yeah, you got a problem with that?" I'm sure the other kids were more curious than anything how she knew the new boy who doesn't speak, but I love how she immediately went on the defensive to protect Teddy. That girl may cause gray hair for her parents in her teen years, but I'll love her forever for this.

I love everything about this. Teddy's clearly loving his delivery gig.

The other is his life skills/teen life class. The teacher is amazing! AJ adored her when he took summer school class with her and had teen life last year. In fact, he was tempted to give up band because he loves her that much as a teacher that he wanted to take her class this year in 7th grade. This class is the single best class for Teddy in my opinion. It focuses on life skills, primarily cooking and baking, though laundry and cleaning are also a part of it. But it also incorporates all his other skills (OT, PT, speech and social) in a super fun setting. The stories from this class are the absolute best, and Teddy shines in this class more than he ever will with reading, writing or math. One of the cool things the students do is deliver treats throughout the school, practicing all their valuable life skills. I'm so glad that Teddy is able to have this class continue next semester. (And that is a good story that I probably will tell in another post.)